NIPAL4 gene

From NCBI Gene:

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]

From UniProt:

Covered on Genetics Home Reference:

• nonbullous congenital ichthyosiform erythroderma
• lamellar ichthyosis

From NCBI Gene:

• Autosomal recessive congenital ichthyosis 6

From UniProt:

Ichthyosis, congenital, autosomal recessive 6 (ARCI6): A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [MIM:612281]

Cytogenetic Location: 5q33.3, which is the long (q) arm of chromosome 5 at position 33.3

Molecular Location: base pairs 157,460,019 to 157,474,722 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• ARCI6
• ICHTHYIN
• ICHYN